Pompe disease and physical disability

Developmental Medicine and Child Neurology

Volumn 45, Issue 9, 2003, Pages 618-623

  Haley, Stephen M ^a   Fragala, Maria A ^a   Skrinar, Alison M ^b  

^a BOSTON UNIVERSITY   (United States)

^b GENZYME CORPORATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGE; ARTICLE; CAUCASIAN; CHILD; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; FUNCTIONAL ASSESSMENT; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; IMMOBILIZATION; INTERVIEW; MALE; MOTOR PERFORMANCE; PARENT; PATIENT MOBILITY; PEDIATRIC EVALUATION OF DISABILITY INVENTORY; PHYSICAL DISABILITY; PRIORITY JOURNAL; SAMPLE; SELF CARE; SPORT; TECHNICAL AID;

ADOLESCENT; ADULT; AGE FACTORS; CHILD; CHILD WELFARE; CHILD, PRESCHOOL; DISABILITY EVALUATION; DISABLED CHILDREN; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; INFANT WELFARE; MALE; MOTOR ACTIVITY; OBSERVER VARIATION; PSYCHOMOTOR PERFORMANCE; SELF CARE;

EID: 0041825155     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0012162203001129     Document Type: Article

References (12)

1. Amalfitano A, Bengur A, Morse RP, Majure JM, Case LE, Veerling DL, Mackey J, Kishnani P, Smith W, Mcvie-Wylie A, Sullivan JA, Hoganson GE, Phillips JAI, Schaefer G, Charrow J, Ware RE, Bossen EH, Chen YT (2001) Recombinant human acid a-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial. Genet Med 3: 132-138.
2. Dumas H, Haley S, Fragala MA, Steva BJ. (2001) Self-care recovery of children with brain injury: Descriptive analysis using the Pediatric Evaluation of Disability Inventory (PEDI) functional classification levels. Phys Occup Ther Pediatr 21: 7-27.
3. Fragala MA, Haley SM, Dumas HM, Rabin JP. (2002) Classifying mobility recovery in children and youth with brain injury during hospital-based rehabilitation. Brain Injury 16: 149-160.
4. Haley S, Fragala M, Aseltine R, Ni P, Skrinar A. (2003) Development of a disease-specific instrument for Pompe disease. Pediatr Rehabil. (Forthcoming).
5. Haley SM, Coster WJ, Ludlow LH, Haltiwanger JT, Andrellos PA. (1992) Pediatric Evaluation of Disability Inventory: Development, Standardization and Administration Manual. Boston, MA: Trustees of Boston University.
6. Hirschhorn R, Reuser A. (2001) Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency. In: Wonsiewicz M, Noujaim S, Boyle P, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th edn. New York: McGraw-Hill. p 3389-3420.
7. Kishnani P, Voit T, Nicolino M, Amalfitano A, Tsai CH, Herman G, Waterson J, Rogers A, Landy H, Cox G, Braakman T, Corzo D, Thurberg B, Richards S, Chen YT. (2002) Recombinant human acid alpha glucosidase (rhGAA) for treatment of classical infantile Pompe disease (CIPD): Preliminary data from a Phase 2 study. Genet Med 25 (Suppl 1): 117. (Abstract).
8. Martiniuk F, Chen A, Mack A, Arvanitopoulos E, Chen Y, Rom W. (1998) Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet 79: 69-72.
9. Palisano R, Rosenbaum P, Walter S, Russell D, Wood E, Galuppi B. (1997) Development and reliability of a system to classify gross motor function in children with cerebral palsy. Dev Med Child Neurol 39: 214-223.
10. Slonim A, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F. (2000) Identification of two subtypes of infantile acid maltase deficiency. J Pediatr 137: 283-285.
11. Van Den Hout H, Reuser A, Vulto A, Loonen M, Cromme-Dijkhuis A, Van Der Ploeg A. (2000) Recombinant human glucosidase from rabbit milk in Pompe patients. Lancet 356: 397-398.
12. Wright B, Masters G. (1982) Rating Scale Analysis. Chicago, IL: MESA Press.